ClinVar Miner

List of variants in gene GALC reported as uncertain significance by Counsyl

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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NC_000014.9:g.87925139C>T rs1555377065
NC_000014.9:g.87925152T>C rs1555377066
NC_000014.9:g.87925176G>A rs1234372203
NM_000153.3(GALC):c.*12G>A rs372641636
NM_000153.3(GALC):c.*14A>G rs143444570
NM_000153.3(GALC):c.-17G>A rs886050868
NM_000153.3(GALC):c.-218G>C rs1555384433
NM_000153.3(GALC):c.-234delGinsTTCC rs1555384440
NM_000153.3(GALC):c.1162-5_1162-4delTTinsC rs1555379806
NM_000153.3(GALC):c.1162-6_1162-5delTTinsA rs1555379811
NM_000153.3(GALC):c.1174T>C (p.Ser392Pro) rs1200769534
NM_000153.3(GALC):c.1187G>A (p.Arg396Gln) rs887930208
NM_000153.3(GALC):c.119G>A (p.Gly40Asp) rs572947747
NM_000153.3(GALC):c.1376A>G (p.His459Arg) rs755193670
NM_000153.3(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.3(GALC):c.1519T>C (p.Phe507Leu) rs1555379155
NM_000153.3(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.3(GALC):c.157C>T (p.Arg53Trp) rs752371343
NM_000153.3(GALC):c.1774G>T (p.Ala592Ser) rs1360345372
NM_000153.3(GALC):c.179C>T (p.Ala60Val) rs759110815
NM_000153.3(GALC):c.1895T>C (p.Leu632Pro) rs1418694289
NM_000153.3(GALC):c.1949T>C (p.Leu650Pro) rs1249991480
NM_000153.3(GALC):c.203C>T (p.Ser68Phe) rs1555383892
NM_000153.3(GALC):c.206G>A (p.Arg69Gln) rs371523347
NM_000153.3(GALC):c.23C>T (p.Ala8Val) rs376511103
NM_000153.3(GALC):c.251A>G (p.Asp84Gly) rs1555383882
NM_000153.3(GALC):c.266C>T (p.Pro89Leu) rs201422931
NM_000153.3(GALC):c.349A>G (p.Met117Val) rs145580093
NM_000153.3(GALC):c.486C>A (p.Asp162Glu) rs767286511
NM_000153.3(GALC):c.555_575del21 (p.His186_Tyr192del) rs1555383500
NM_000153.3(GALC):c.582+5G>A rs757016859
NM_000153.3(GALC):c.583A>G (p.Ile195Val) rs1555383309
NM_000153.3(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000153.3(GALC):c.691G>A (p.Glu231Lys) rs542231350
NM_000153.3(GALC):c.832A>G (p.Thr278Ala) rs886042645
NM_000153.3(GALC):c.916G>A (p.Ala306Thr) rs1349064845
NM_000153.3(GALC):c.927A>C (p.Leu309Phe) rs758904079
NM_000153.3(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_001201401.1(GALC):c.1918T>G (p.Trp640Gly) rs1060499761
NM_001201402.1(GALC):c.117dup (p.Ala40Serfs) rs1555384436
NM_001201402.1(GALC):c.20del (p.Gly7Valfs) rs1555384465
NM_001201402.1(GALC):c.40dup (p.Leu14Profs) rs1555384458
NM_001201402.1(GALC):c.52dup (p.Asp18Glyfs) rs1482465546
NM_001201402.1(GALC):c.75C>A (p.Cys25Ter) rs1307710694
NM_001201402.1(GALC):c.81dup (p.Val28Serfs) rs1555384444

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